Canonical Allele Identifier: CA948106051

Gene: CDK4

Linked Data

• dbSNP Id: rs1955223122
• gnomAD v3: 12-57750504-C-T
• gnomAD v4: 12-57750504-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750504C>T , CM000674.2:g.57750504C>T	GRCh38
NC_000012.11:g.58144287C>T , CM000674.1:g.58144287C>T	GRCh37
NC_000012.10:g.56430554C>T	NCBI36
NG_007484.2:g.6878G>A , LRG_490:g.6878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+152G>A MANE Select	ENSP00000257904.5:n.632+152G>A
ENST00000257904.10:c.632+152G>A	ENSP00000257904.5:n.632+152G>A
ENST00000312990.10:c.280+152G>A	ENSP00000316889.6:n.280+152G>A
ENST00000546489.5:c.410+152G>A	ENSP00000447779.1:n.410+152G>A
ENST00000547281.5:c.410+152G>A	ENSP00000447274.1:n.410+152G>A
ENST00000549606.5:c.-157-1000G>A	ENSP00000447005.1:n.-157-1000G>A
ENST00000550419.5:c.582G>A	ENSP00000448098.1:p.Gln194=
ENST00000551888.5:n.458+152G>A
ENST00000553237.5:c.*271+152G>A	ENSP00000448885.1:n.*271+152G>A
NM_000075.3:c.632+152G>A	NP_000066.1:n.632+152G>A
NM_000075.4:c.632+152G>A MANE Select	NP_000066.1:n.632+152G>A